Medical Xpress: Nutritional and Metabolic Diseases: News and Research on Cockayne Syndrome Cockayne syndrome is a severe autosomal recessive disorder caused by defective DNA repair mechanisms. People with the disease have much reduced life expectancy and suffer from facial deformities; ... Medical Xpress: Congenital, Hereditary, and Neonatal Diseases and Abnormalities: News and Research on Cockayne Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities: News and Research on Cockayne Syndrome